Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1 |
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| Affiliation: | 1. Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, Iran;2. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran;3. Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran;4. Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran;5. Department of Pathology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran;6. Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran;7. Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran;1. Department of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany;2. Department of Radiation Oncology, Hannover Medical School, Hannover, Germany;3. Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;4. Department of Radiology, Norman Bethune College of Medicine, Second Hospital of Jilin University, Changchun, China;5. Genome Analytics Unit, Helmholtz Center for Infection Research, Braunschweig, Germany;6. Radiation Oncology Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;1. Neonatal Intensive Care Unit, Jessop Wing, Tree Root Walk, Sheffield, UK;2. Sheffield Diagnostic Genetics Service, Sheffield Children''s NHS Foundation Trust, Sheffield, UK;3. Sheffield Clinical Genetics Service, Sheffield Children''s NHS Foundation Trust, Sheffield, UK;4. Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK;1. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan;2. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan;3. Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan;1. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy;2. Department of Laboratory and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy;3. Università Cattolica Sacro Cuore, Rome, Italy;4. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy;5. Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy;6. Department of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy;1. Department of Cardiology, Keio University School of Medicine, Tokyo, Japan;2. Division of Diagnostic Pathology, Keio University School of Medicine, Tokyo, Japan;3. Department of Cardiology, Tokyo Dental College Ichikawa General Hospital, Chiba, Japan;4. Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan;5. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;1. Division of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China;2. Department of Cardiology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, 22100, China;3. State Key Laboratory in Reproductive Medicine, Centre for Clinical Reproductive Medicine, Nanjing Medical University, Nanjing, 210029, China |
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| Abstract: | ![]()
Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). The main phenotypic features of KIDAR are ichthyosis, keratitis, erythroderma, and progressive hearing loss accompanied by developmental delay and failure to thrive. Herein, we describe a six-and-a-half-year-old boy with KIDAR caused by a novel pathogenic variant in AP1B1 (NM_001127.4:c.1263C > A, p.Tyr421*). The proband presented with ichthyosis, erythroderma, palmoplantar keratoderma, hearing loss, and corneal scarring. He also had hypotonia, global developmental delay, and photophobia. Lastly, we review all of the previously reported cases and the clinical features associated with KIDAR. |
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| Keywords: | Autosomal recessive keratitis-ichthyosis-deafness syndrome Copper metabolism Developmental delay KIDAR |
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